Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures

Jennifer A. Wambach, Daniel J. Wegner, Ping Yang, Marwan Shinawi, Dustin Baldridge, Ewelina Betleja, Joshua S. Shimony, David Spencer, Brian P. Hackett, Marisa V. Andrews, Thomas Ferkol, Susan K. Dutcher, Moe R. Mahjoub, F. Sessions Cole

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